TTC21B: From Modifier to Causative Gene in Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa +4 more
wiley +1 more source
Newfound features associated with Hennekam Syndrome (Intestinal Lymphangiectasia-Lymphedema-Intellectual-Disability Syndrome) complicated with comorbid Waldmann's Disease resulting in Celiac Disease. [PDF]
Clin Case Rep, 2023 Safari Vejin T +3 more
europepmc +1 more source
, 2011 The authors compare the prevalence of obesity for National Core Indicators (NCI) survey participants with intellectual disability and the general U.S. adult population.
Sheryl Larson +7 more
core +1 more source
Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha +6 more
wiley +1 more source
Brief psychotic disorder treatment with Olanzapine in a patient with Phelan-McDermid syndrome
European PsychiatryIntroduction The patient is a 50-year-old female, with multiple admissions in the PICU. At her first admission, at the age of 30 she presented the following main symptoms :mutism, negativism, crying and loss of bladder and bowel control.
I. Retsou, D. Antoniadis
doaj +1 more source
Identification of SUZ12 Haploinsufficiency due to a 1.4-Mb Deletion at 17q11.2 in a Child With Overgrowth and Intellectual Disability Syndrome. [PDF]
Ann Lab Med, 2023 Park S, Jang MA.
europepmc +1 more source
Chromatin Structure and Intellectual Disability Syndromes
, 2013 The molecular complex consisting of DNA and its associated proteins is referred to as chromatin. In the central nervous system (CNS), dynamic chromatin remodelling is required for cell division, specification, differentiation, maturation and to respond appropriately to environmental cues (reviewed in 1-4).
Adrienne Elbert, Nathalie G.
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Studying Mendelian neurodevelopmental disorders (NDDs) from a bottom‐up perspective, in which neurocognitive functioning is conceptualized as a mediator between genotype and behavioral phenotype, may facilitate early identification of syndrome‐specific vulnerabilities.
Myrthe R. M. Kamphof +3 more
wiley +1 more source
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. [PDF]
Clin Genet, 2023 Elbendary HM +12 more
europepmc +1 more source